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INTRODUCTION: Hepatolenticular degeneration (Wilson disease) is an autosomal recessive monogenic disorder caused by mutations in the ATPase copper transporting beta (ATP7B) gene located on human chromosome 13. This gene encodes a copper-transporting P-type ATPase (ATP7B). Recent studies have revealed that the ATP7B gene is predominantly affected by a few hotspot mutations, with the His1069Gln mutation in exon 14 accounting for 50 to 80% of cases. In China, the Arg778Leu mutation in exon 8 is the most prevalent. However, the discovery of novel mutant genes persists. CASE PRESENTATION: A 56-year-old Chinese female was referred to our hospital with a liver injury and cirrhosis. Her parents, 2 younger brothers, and children exhibited no signs of liver function impairment. Whole-exome sequencing was conducted on the proband's genomic DNA, and Sanger sequencing was performed on 6 family members for first-generation verification. CONCLUSIONS: We identified a novel c.3715Gâ >â T (p.Val1239Phe) variant mutation in the ATP7B gene in the patient. The ATP7B c.3715Gâ >â T (p.Val1239Phe) variant is predicted to impact the copper transport P-type ATPase. When combined with another mutant gene to form a compound heterozygous mutation, it can lead to hepatolenticular degeneration. This discovery broadens the range of pathogenic genes in the ATP7B gene.
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ATPasas Transportadoras de Cobre , Degeneración Hepatolenticular , Humanos , Degeneración Hepatolenticular/genética , ATPasas Transportadoras de Cobre/genética , Femenino , Persona de Mediana Edad , Mutación , China , Linaje , Pueblo Asiatico/genética , Pueblos del Este de AsiaRESUMEN
The energy crisis is a the worldwide problem which needs humans to solve immediately. To solve this problem, it is necessary to develop energy storage batteries. It is worth mentioning the aqueous rechargeable zinc ion batteries (ARZBs) which have some advantages, such as low cost, good safety and no need for an organic electrolyte as in the traditional lithium-ion batteries. However, it is still a challenge to find suitable and reliable electrode materials. In this work, as-prepared H2V3O8 nanorods and MXene composites are used as cathode materials in ARZBs which were designed well using a hydrothermal method after optimizing the reaction time. The results showed that H2V3O8/MXene ARZBs could provide a good transport path for zinc ions, which were based on special 1D H2V3O8 nanorods and 2D multi-layered MXene materials, which exhibited an outstanding initial specific discharge capacity of 373 mA h g-1 at 200 mA g-1, good rate capability and a long lifecycle with only 15.8% capacity decay at 500 mA g-1 after 5000 cycles. The H2V3O8/MXene composites with a good electrochemical performance bring insight into their promising applications for energy storage batteries. They provided enhanced rate performance and excellent cycling stability, which was ascribed to the multi-step and multi-mode zinc ion insertion/extraction process. This was confirmed by the use of the 1D/2D integrated structure of the H2V3O8/MXene composites, which was conductive to zinc ion diffusion.
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[This corrects the article DOI: 10.1039/D3RA04143C.].
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Electrodes that offer quick ion transport, a large surface area, and excellent electrical conductivity support high performance aqueous rechargeable lithium batteries. LiFePO4 (LFP) nanoparticles have been successfully coated with carbon by a chemical sol-gel route, and assembled on graphite by an ultrasonication method to acquire LFP/C/graphite. This LFP/C/graphite composite exhibits exceptional electrochemical performance at various current densities (1C to 20C). LFP/C/graphite delivers better capacity that is higher than that of LFP/C particles and high stability after 60 cycles at a current density of 1C for aqueous rechargeable lithium batteries as a cathode material. The graphite serves as a good volume buffer in improving the lithium performance of LFP/C/graphite during the charge/discharge process. The LFP/C/graphite composite shows high rate capability at 20C that returned to the initial capacity at 1C after 25 cycles with coulombic efficiency of 97%. Therefore, this effort presents a super low-cost route to fabricate high performance cathode materials in aqueous rechargeable lithium batteries and other energy storage appliances.
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Photocatalytic reactions convert solar energy into chemical energy through a clean and green reaction process. Photocatalytic technology based on semiconductor materials provides us with a new idea in energy utilization and environmental governance. It was found that vanadium pentoxide (V2O5) has a narrow band gap, wide response range in the visible region, high oxygen density in the V2O5 lattice, high oxidation state of V5+, small energy requirement, and superior catalytic activity in partial oxidation. Therefore, the utilization rate of sunlight and photocatalytic oxidation can be greatly improved using V2O5 materials. However, the narrow band gap of V2O5 also makes it easier for the photogenerated electrons and holes to recombine in the excited state, and the stored energy is instantly consumed by carrier recombination. Therefore, how to promote the carrier separation of V2O5 and improve the photocatalytic efficiency are the key problems to be solved. Herein, several methods to improve the photocatalytic performance of V2O5 are reviewed, including metallic ion doping, non-metallic ion doping, semiconductor recombination, and noble metal deposition. Finally, it is suggested that future research directions should focus on a variety of modification methods simultaneously to promote photocatalytic efficiency and lower the cost, which will enable V2O5 to have a broad development prospect in the field of photocatalysis.
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Nanorod-supported (Pt-Pd)/CeO2 catalysts were synthesized by a simple method of dealloying Al91.7Ce8 Pt X Pd0.3-X (X = 0, 0.075, 0.1, 0.15, 0.2, 0.3) alloy ribbons. SEM and TEM characterization implied that after calcination treatment, the achieved resultants exhibited interspersed nanorod structures with a rich distribution of nanopores. Catalytic tests showed that the (Pt0.1-Pd0.2)/CeO2 catalyst calcined at 300 °C exhibited the highest catalyst activity for CO oxidation when compared with other catalysts prepared at different noble metal ratios or calcined at other temperatures, whose complete reaction temperature was as low as 100 °C. The outstanding catalytic performance is ascribed to the stable framework structure, rich gas pathways and collaborative effect between the noble Pt and Pd bimetals.
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K0.25V2O5 (KVO) and K0.25V2O5/graphene oxide (KVO/GO) have been successfully synthesized by a chemical coprecipitation method and a subsequent calcination process. The structure and morphology of KVO and KVO/GO were characterized by X-ray diffraction, scanning electron microscopy, transmission electron microscopy, and X-ray photoelectron spectroscopy. The as-obtained vanadate and vanadate modified by GO materials were used as anodes with LiMn2O4 as a cathode and saturated LiNO3 as an electrolyte to assemble an aqueous rechargeable lithium-ion battery (ARLB). The cyclic voltammogram curves of both KVO and KVO/GO electrodes exhibited three pairs of redox peaks corresponding to charge/discharge platforms. We found that a small amount of graphene oxide added improved the electrochemical performance more significantly than excess graphene oxide. The as-prepared KVO/GO//LiMn2O4 could not only improve the initial discharge capacity but could also reduce the attenuation at a high current density. Furthermore, the ARLB with a KVO/GO anode exhibited an excellent rate performance and super long cycle life. These good electrochemical properties of this new ARLB system actually provided feasibility for application in large-scale power sources and energy storage devices.
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Seasonal H3N2 influenza evolves rapidly, leading to an extremely poor vaccine efficacy. Substitutions employed during vaccine production using embryonated eggs (i.e., egg passage adaptation) contribute to the poor vaccine efficacy (VE), but the evolutionary mechanism remains elusive. Using an unprecedented number of hemagglutinin sequences (n = 89,853), we found that the fitness landscape of passage adaptation is dominated by pervasive epistasis between two leading residues (186 and 194) and multiple other positions. Convergent evolutionary paths driven by strong epistasis explain most of the variation in VE, which has resulted in extremely poor vaccines for the past decade. Leveraging the unique fitness landscape, we developed a novel machine learning model that can predict egg passage substitutions for any candidate vaccine strain before the passage experiment, providing a unique opportunity for the selection of optimal vaccine viruses. Our study presents one of the most comprehensive characterizations of the fitness landscape of a virus and demonstrates that evolutionary trajectories can be harnessed for improved influenza vaccines.
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Vacunas contra la Influenza , Gripe Humana , Glicoproteínas Hemaglutininas del Virus de la Influenza/genética , Hemaglutininas , Humanos , Subtipo H3N2 del Virus de la Influenza A/genética , Vacunas contra la Influenza/genéticaRESUMEN
Aqueous rechargeable lithium-ion batteries (ARLBs) are regarded as a competitive challenger for large-scale energy storage systems because of their high safety, modest cost, and green nature. A kind of modified composite material composed of H2V3O8 nanorods and graphene sheets (HVO/G) has been effectively made by a one-step hydrothermal method and following calcination at 523 K. XRD, SEM, TEM, and TG are used to determine the phase structures and morphologies of the composite materials. Owing to the advantage of the layered structure of H2V3O8 nanorods, the excellent conductivity of the graphene sheets, and the 3D network structure of the modified composite, the ARLBs with HVO/G can deliver an adequate specific capacity of 271 mA h g-1 at 200 mA g-1 and have a retention rate of 73.4% after 50 cycles. The average discharge capacity of ARLB with HVO/G as anode has a considerable improvement over that of HVO/CNTs and HVO, whatever the current rate used. Moreover, we find that the diffusion coefficient of lithium-ion increases by an order of magnitude through the theoretical calculation for HVO/G ARLB. The new ARLB with HVO/G electrode is a potential energy storage system with great advantages, such as simple preparation, easy assembly process, excellent safety and low-cost environmental protection.
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The mainland Chinese fauna of the leaf beetle genus Adiscus Gistel, 1857 is revised and three new species described: Adiscus daofuensis Duan Zhou, new species from Sichuan, Gansu and Henan, A. ningshanensis Duan Zhou, new species from Shaanxi, and A. tanae Duan Zhou, new species from Tibet. One species is newly recorded from China: A. pubiventris Medvedev, 2008. The mainland Chinese fauna of Adiscus is 35 species, almost all of which are redescribed. Color illustrations and line drawings are provided and a key to all 35 Chinese mainland species. Types of the new species are deposited in the Institute of Zoology, Chinese Academy of Sciences.
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Escarabajos , Distribución Animal , Estructuras Animales , Animales , ChinaRESUMEN
Two new species of the genus Smaragdina Chevrolat from China are reported: S.hejingensis Duan, Wang & Zhou sp. nov. from Xinjiang, and S.magnipunctata Duan, Wang and Zhou sp. nov. from Yunnan. Six species, S.divisa (Jacoby), S.insulana Medvedev, S.kimotoi Lopatin, S.laboissierei (Pic), S.laosensis Kimoto & Gressitt, and S.oculata Medvedev are new country records for China. Color illustrations and line drawings of general habitus and morphological details are given. All types of two new species are deposited in the collection of Institute of Zoology, Chinese Academy of Sciences (IZ-CAS).
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Two new species of the genus Melixanthus Suffrian, 1854 are described from China: M.menglaensis Duan, Wang & Zhou, sp. nov. from Yunnan (also in Vietnam, Tonkin) and M.similibimaculicollis Duan, Wang & Zhou, sp. nov. from Yunnan. Another species, M.rufiventris Pic, 1926, is reported for the first time in China. High-quality color images and line drawings of adult habitus, aedeagus, and other important structures are provided for all three species. The types of the new species are deposited in the collection of Institute of Zoology, Chinese Academy of Sciences (IZ-CAS).
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NiS/NiO nanoparticles are successfully fabricated through a simple dealloying method and an ion-exchange process. X-ray diffraction demonstrates the existence of NiO and NiS phases, and scanning electron microscopy and transmission electron microscopy imply the nanopore distribution nature and the nanoparticle morphology of the produced material. The electrochemical behaviors are studied by cyclic voltammetry and galvanostatic charge-discharge measurements. The NiS/NiO electrode shows an enhanced specific capacitance of 1260 F g-1 at a current density of 0.5 A g-1. The NiS/NiO//AC device provides a maximum energy density of 17.42 W h kg-1, a high power density of 4000 W kg-1, and a satisfactory cycling performance of 93% capacitance retention after 30,000 cycles.
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OBJECTIVE: To analyze the genetic cause of a hearing loss child with the Treacher Collins syndrome (TCS) phenotypes of malar hypoplasia, micrognathia, antimongoloid slanting palpebral fissures and cup ears. METHODS: Clinical analysis, hearing tests, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) were performed on the family members. RESULTS: The 6 months old boy with a range of Treacher Collins syndrome phenotypes including malar hypoplasia, micrognathia, antimongoloid slanting palpebral fissures, cup ears, and hearing loss. While CMA analyses did not detect significant deletion or duplication, WES analysis identified a novel nonsense mutation c.163C > T (p.Q55X) in exon 2 of TCOF1 gene. Sanger sequencing analysis confirmed the mutation in the patient, but not in his parents. CONCLUSION: This article reports a novel nonsense mutation located at exon 2 in TCOF1 gene, which predicts premature protein termination of treacle, indicating that haploinsufficiency of TCOF1 gene is responsible for Treacher Collins syndrome. Our study increases the cohort of Chinese TCS patients, and expands the TCS variation spectrum.
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Disostosis Mandibulofacial , Niño , Exones , Humanos , Lactante , Masculino , Disostosis Mandibulofacial/genética , Mutación , Proteínas Nucleares/genética , Fosfoproteínas/genéticaRESUMEN
Altitude acclimatization is a human physiological process of adjusting to the decreased oxygen availability. Since several physiological processes are involved and their correlations are complicated, the analyses of single traits are insufficient in revealing the complex mechanism of high-altitude acclimatization. In this study, we examined these physiological responses as the composite phenotypes that are represented by a linear combination of physiological traits. We developed a strategy that combines both spectral clustering and partial least squares path modeling (PLSPM) to define composite phenotypes based on a cohort study of 883 Chinese Han males. In addition, we captured 14 composite phenotypes from 28 physiological traits of high-altitude acclimatization. Using these composite phenotypes, we applied k-means clustering to reveal hidden population physiological heterogeneity in high-altitude acclimatization. Furthermore, we employed multivariate linear regression to systematically model (Models 1 and 2) oxygen saturation (SpO2) changes in high-altitude acclimatization and evaluated model fitness performance. Composite phenotypes based on Model 2 fit better than single trait-based Model 1 in all measurement indices. This new strategy of using composite phenotypes may be potentially employed as a general strategy for complex traits research such as genetic loci discovery and analyses of phenomics.
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Olivine LiFePO4 covered flocculent carbon layers wrapped with carbon nanotubes (CNTs) prepared by sol-gel method and calcination is used as the cathode material for aqueous rechargeable lithium-ion batteries (ARLBs). The phase structures and morphologies of the composite material are characterized by X-ray diffraction (XRD), selected area electron diffraction (SAED), and transmission electron microscopy (TEM). The mechanism and method through which CNTs and flocculent carbon improve the electrochemical performance are investigated in an aqueous lithium-ion battery by setting up a comparative experiment. The ARLB system is assembled using a LiFePO4/C/CNTs cathode and a zinc anode in 1 mol L-1 ZnSO4·7H2O and saturated LiNO3 aqueous solution (pH = 6), which can deliver a capacity of 158 mA h g-1 at a rate of 1C. Even at a rate of 50C, it still has a capacity of 110 mA h g-1 after 250 cycles with fantastic capacity retention (95.7%). The lithium-ion diffusion coefficient increases by an order of magnitude due to the addition of CNTs together with flocculent carbon. Four LEDs are successfully powered by the ARLBs for more than one minute to demonstrate the practical application. The excellent rate capabilities and thrilling discharge capacity at a high rate indicate that this cathode material possesses excellent electrochemical performance, and this ARLB system exhibits excellent potential as a power source for environmental applications.
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An aqueous rechargeable lithium-ion battery (ARLB) system has been assembled using as-prepared polypyrrole (PPy) to coat Na0.8K0.2K6O15 (NKVO) anode coupled with LiMn2O4 cathode, both immersed in an aqueous LiNO3 solution. The chemical polymerization techniques have been employed to uniformly coat the surface of NKVO with PPy. The phase of NKVO@PPy composite has been characterized by X-ray diffraction; for quantifying PPy content, the thermal gravimetric analysis was performed. Spectroscopy techniques have been used to visualize the microscale morphological changes on the particle surface of NKVO caused by PPy coating. The staircase cyclic voltammetry and galvanic charge-discharge tests have been conducted at various current rates in the voltage range of -1 to 1 V vs. saturated calomel electrode (SCE). The PPy coated NKVO material showed a similar intercalation/deintercalation mechanism to that of pristine NKVO. When subjected to cyclic performance evaluation at a higher rate of 4 A g-1, PPy-coated NKVO@PPy exhibited a preliminary discharge capacity of 115 mA h g-1 and 64.5 mA h g-1 following 400 cycles of charge-discharge with a retention rate of 55.6%, whereas the uncoated NKVO showed only 18.8% capacity retention rate. The significantly improved cyclic capacity retention has been attributed to the PPy coating, which acted as a protective layer preventing the unwanted side reactions, buffering the volume change and simultaneously increasing the electrical conductivity of pristine NKVO electrode during charge-discharge cycles. The decent performance demonstrated that NKVO@PPy is a promising electrode material for ARLB.
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BACKGROUND: Tbx2 plays a critical role in determining fates of cardiomyocytes. Little is known about the contribution of TBX2 3' untranslated region (UTR) variants to the risk of congenital heart defect (CHD). Thus, we aimed to determine the association of single-nucleotide polymorphisms (SNPs) in TBX2 3' UTR with CHD susceptibility. METHODS: We recruited 1285 controls and 1241 CHD children from China. SNPs identification and genotyping were detected using Sanger Sequencing and SNaPshot. Stratified analysis was conducted to explore the association between rs59382073 polymorphism and CHD subtypes. Functional analyses were performed by luciferase assays in HEK-293T and H9c2 cells. RESULTS: Among five TBX2 3'UTR variants identified, rs59382073 minor allele T carriers had a 1.89-fold increased CHD risk compared to GG genotype (95% CI = 1.48-2.46, P = 4.48 × 10-7). The most probable subtypes were right ventricular outflow tract obstruction, conotruncal, and septal defect. G to T variation decreased luciferase activity in cells. This discrepancy was exaggerated by miR-3940 and miR-708, while their corresponding inhibitors eliminated it. CONCLUSION: T allele of rs59382073 in TBX2 3'UTR contributed to greater CHD risk in the Han Chinese population. G to T variation created binding sites for miR-3940 and miR-708 to inhibit gene expression.
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Predisposición Genética a la Enfermedad , Cardiopatías Congénitas/genética , Polimorfismo de Nucleótido Simple , Proteínas de Dominio T Box/genética , Regiones no Traducidas 3' , Alelos , Animales , Pueblo Asiatico , Sitios de Unión , Estudios de Casos y Controles , Niño , China/etnología , Ecocardiografía , Femenino , Regulación de la Expresión Génica , Genotipo , Células HEK293 , Cardiopatías Congénitas/etnología , Ventrículos Cardíacos , Humanos , Masculino , MicroARNs/genética , Fenotipo , Plásmidos/metabolismo , Ratas , Medición de RiesgoRESUMEN
Fe3O4-Ag Janus composites were synthesized using a two-step solvothermal method. The optimal growth process was determined by investigating the relationship between the particle morphologies and reaction time. Magnetic and Raman spectroscopic measurements showed that the as-synthesized Janus composites have both good magnetic response and significant surface-enhanced Raman scattering (SERS) effects, as well as reproducibility. The calculated Raman enhancement factor reached an unprecedented magnitude of 109 compared with the values of other Fe3O4-Ag compounds. Furthermore, the SERS effect was exhibited even at a concentration of probe molecules as low as 10-13 M. This demonstrates that the as-synthesized Fe3O4-Ag Janus composite particles have promise for application as separable, highly sensitive SERS substrates.